News on lab-developed tests and emerging diagnostic technologies.
The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.
Palmetto GBA issued final local coverage determination for the tissue-based, 31-gene expression test, which determines a patient’s risk for metastatic disease.
The firm plans to conduct a prospective trial of a pan cancer assay and aims to bring another assay focused on colorectal cancer through FDA clearance.
Researchers at ASHG reported on projects studying the potential of implementing on a large scale rapid WGS in NICUs for faster diagnosis of genetic disorders.
The firm said that the assay uses vaginal or rectal swabs to identify Group B Streptococcus DNA in about an hour. It has filed for 510(k) clearance with the US FDA.
